ArticleArchives of osteoporosis2023
Utilize polygenic risk score to enhance fracture risk estimation and improve the performance of FRAX in patients with osteoporosis.
Article in Archives of osteoporosis, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 3 citations in OpenAlex.
- Osteoporosis genetic risk prediction using bone mineral density polygenic scores in Japanese: TMM CommCohort study.Journal of human genetics · 2026Article
- Personalized prophylactic therapy optimization in hemophilia A using a hybrid PK-PD-TTE model and deep RL.Journal of pharmacokinetics and pharmacodynamics · 2026Article
- Polygenic Risk Score as a Predictor of Bone Fracture or Osteoporosis in Prostate Cancer Patients Receiving Androgen Deprivation Therapy.Cancer medicine · 2025Article
- Isonardosinone suppresses osteoclastogenesis through TRAF2/TRAF6-mediated disruption of calcium signaling and coordinate inhibition of MAPK/NF-κB pathways.BBA advances · 2025Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study examined the use of polygenic risk scores (PGS) in combination with the Fracture Risk Assessment Tool (FRAX) to enhance fragility fractures risk estimation in osteoporosis patients. Analyzing data from over 57,000 participants, PGS improved fracture risk estimation, especially for individuals with intermediate to low risks, allowing personalized preventive strategies.
introductionOsteoporosis and fragility fractures are multifactorial, with contributions from both clinical and genetic determinants. However, whether using polygenic risk scores (PGS) may enhance the risk estimation of osteoporotic fracture in addition to Fracture Risk Assessment Tool (FRAX) remains unknown. This study investigated the collective association of PGS and FRAX with fragility fracture.
methodsWe conducted a cohort study from the Taiwan Precision Medicine Initiative (TPMI) at Taichung Veterans General Hospital, Taiwan. Genotyping was performed to compute PGS associated with bone mineral density (BMD). Phenome-wide association studies were executed to pinpoint phenotypes correlated with the PGS. Logistic regression analysis was conducted to ascertain factors associated with osteoporotic fractures.
resultsAmong all 57,257 TPMI participants, 3744 (904 men and 2840 women, with a mean age of 66.7) individuals had BMD testing, with 540 (14.42%) presenting with fractures. The 3744 individuals who underwent BMD testing were categorized into four quartiles (Q1-Q4) based on PGS; 540 (14.42%) presented with fractures. Individuals with PGS-Q1 exhibited lower BMD, a higher prevalence of major fractures, and elevated FRAX-major and FRAX-hip than those with PGS-Q4. PGS was associated with major fractures after adjusting age, sex, and FRAX scores. Notably, the risk of major fractures (PGS-Q1 vs. Q4) was significantly higher in the subgroups of FRAX-major scores < 10% and 10-20%, but not in participants with a FRAX-major score ≧ 20%.
conclusionsOur study highlights the potential of PGS to augment fracture risk estimation in conjunction with FRAX, particularly in individuals with middle to low risks. Incorporating genetic testing could empower physicians to tailor personalized preventive strategies for osteoporosis.
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